Identification of an altered splice site in Ashkenazi Tay-Sachs disease

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Molecular Cloning. A Laboratory Manual

1983 • 27,328 citations

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

The isolation and characterization of linked δ- and β-globin genes from a cloned library of human DNA

1978 • 1,055 citations

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1983 • 627 citations

The Origin and Evolution of Retroposons

1985 • 555 citations

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1987 • 514 citations

Lysosomes and lysosomal storage diseases

1981 • 315 citations

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1986 • 249 citations

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

1986 • 176 citations

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease.

1987 • 148 citations

Organization of the gene encoding the human beta-hexosaminidase alpha-chain.

1987 • 127 citations

Different Mutations in Ashkenazi Jewish and Non-Jewish French Canadians with Tay-Sachs Disease

1986 • 105 citations

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

1985 • 84 citations

Controversy in human genetics: founder effect in Tay-Sachs disease.

1972 • 36 citations

Ethnic variation of genetic disease: roles of drift for recessive lethal genes.

1978 • 33 citations